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Showing metabocard for 3-Methylglutaconic acid (HMDB0000522)

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IdentificationTaxonomyOntologyPhysical propertiesSpectraBiological propertiesConcentrationsLinksReferencesXML
Record Information
Version5.0
StatusDetected and Quantified
Creation Date2005-11-16 15:48:42 UTC
Update Date2020-10-09 20:59:37 UTC
HMDB IDHMDB0000522
Secondary Accession Numbers
  • HMDB00522
Metabolite Identification
Common Name3-Methylglutaconic acid
Description3-Methylglutaconic acid is an intermediate (as the CoA thioester) in the leucine degradative pathway as well as the mevalonate shunt, a pathway that links isoprenoid metabolism with mitochondrial acetyl-CoA metabolism (PMID: 7603789 ). 3-methylglutaconyl-CoA hydratase is involved in the metabolism process of 3-methylglutaconic acid. When present in sufficiently high levels, 3-methylglutaconic acid can act as an acidogen and a metabotoxin. An acidogen is an acidic compound that induces acidosis, which has multiple adverse effects on many organ systems. A metabotoxin is an endogenously produced metabolite that causes adverse health effects at chronically high levels. Chronically high levels of 3-methylglutaconic acid are associated with at least five inborn errors of metabolism including 3-hydroxy-3-methylglutaryl-CoA lyase deficiency, 3-methylglutaconic aciduria type I, 3-methylglutaconic aciduria type III, 3-methylglutaconic aciduria type IV, and guanidinoacetate methyltransferase deficiency (GAMT deficiency). 3-Methylglutaconic acid is an organic acid. Abnormally high levels of organic acids in the blood (organic acidemia), urine (organic aciduria), the brain, and other tissues lead to general metabolic acidosis. Acidosis typically occurs when arterial pH falls below 7.35. In infants with acidosis, the initial symptoms include poor feeding, vomiting, loss of appetite, weak muscle tone (hypotonia), and lack of energy (lethargy). These can progress to heart, liver, and kidney abnormalities, seizures, coma, and possibly death. These are also the characteristic symptoms of the untreated IEMs mentioned above. Many affected children with organic acidemias experience intellectual disability or delayed development. In adults, acidosis or acidemia is characterized by headaches, confusion, feeling tired, tremors, sleepiness, and seizures.
Structure
Data?1582752137
MOLSDF3D SDFPDB3D PDBSMILESInChI

MOL for HMDB0000522 (3-Methylglutaconic acid)

3-Methylglutaconic acid.mol
  Mrv1652302121822452D          

 10  9  0  0  0  0            999 V2000
    1.4289   -0.2062    0.0000 C   0  0  0  0  0  0  0  0  0  0  0  0
    0.7145   -0.6188    0.0000 C   0  0  0  0  0  0  0  0  0  0  0  0
    0.0000   -0.2063    0.0000 C   0  0  0  0  0  0  0  0  0  0  0  0
   -0.7145   -0.6188    0.0000 C   0  0  0  0  0  0  0  0  0  0  0  0
   -1.4289   -0.2063    0.0000 C   0  0  0  0  0  0  0  0  0  0  0  0
    1.4289    0.6188    0.0000 O   0  0  0  0  0  0  0  0  0  0  0  0
    2.1434   -0.6188    0.0000 O   0  0  0  0  0  0  0  0  0  0  0  0
   -1.4289    0.6187    0.0000 O   0  0  0  0  0  0  0  0  0  0  0  0
   -2.1434   -0.6188    0.0000 O   0  0  0  0  0  0  0  0  0  0  0  0
    0.0000    0.6187    0.0000 C   0  0  0  0  0  0  0  0  0  0  0  0
  1  2  1  0  0  0  0
  2  3  2  0  0  0  0
  3  4  1  0  0  0  0
  4  5  1  0  0  0  0
  1  6  2  0  0  0  0
  1  7  1  0  0  0  0
  5  8  2  0  0  0  0
  5  9  1  0  0  0  0
  3 10  1  0  0  0  0
M  END
Download

3D MOL for HMDB0000522 (3-Methylglutaconic acid)

Download
3D SDF for HMDB0000522 (3-Methylglutaconic acid)
3-Methylglutaconic acid.mol
  Mrv1652302121822452D          

 10  9  0  0  0  0            999 V2000
    1.4289   -0.2062    0.0000 C   0  0  0  0  0  0  0  0  0  0  0  0
    0.7145   -0.6188    0.0000 C   0  0  0  0  0  0  0  0  0  0  0  0
    0.0000   -0.2063    0.0000 C   0  0  0  0  0  0  0  0  0  0  0  0
   -0.7145   -0.6188    0.0000 C   0  0  0  0  0  0  0  0  0  0  0  0
   -1.4289   -0.2063    0.0000 C   0  0  0  0  0  0  0  0  0  0  0  0
    1.4289    0.6188    0.0000 O   0  0  0  0  0  0  0  0  0  0  0  0
    2.1434   -0.6188    0.0000 O   0  0  0  0  0  0  0  0  0  0  0  0
   -1.4289    0.6187    0.0000 O   0  0  0  0  0  0  0  0  0  0  0  0
   -2.1434   -0.6188    0.0000 O   0  0  0  0  0  0  0  0  0  0  0  0
    0.0000    0.6187    0.0000 C   0  0  0  0  0  0  0  0  0  0  0  0
  1  2  1  0  0  0  0
  2  3  2  0  0  0  0
  3  4  1  0  0  0  0
  4  5  1  0  0  0  0
  1  6  2  0  0  0  0
  1  7  1  0  0  0  0
  5  8  2  0  0  0  0
  5  9  1  0  0  0  0
  3 10  1  0  0  0  0
M  END
> <DATABASE_ID>
HMDB0000522

> <DATABASE_NAME>
hmdb

> <SMILES>
C\C(CC(O)=O)=C/C(O)=O

> <INCHI_IDENTIFIER>
InChI=1S/C6H8O4/c1-4(2-5(7)8)3-6(9)10/h2H,3H2,1H3,(H,7,8)(H,9,10)/b4-2+

> <INCHI_KEY>
WKRBKYFIJPGYQC-DUXPYHPUSA-N

> <FORMULA>
C6H8O4

> <MOLECULAR_WEIGHT>
144.1253

> <EXACT_MASS>
144.042258744

> <JCHEM_ACCEPTOR_COUNT>
4

> <JCHEM_ATOM_COUNT>
18

> <JCHEM_AVERAGE_POLARIZABILITY>
13.266891782956623

> <JCHEM_BIOAVAILABILITY>
1

> <JCHEM_DONOR_COUNT>
2

> <JCHEM_FORMAL_CHARGE>
0

> <JCHEM_GHOSE_FILTER>
0

> <JCHEM_IUPAC>
(2E)-3-methylpent-2-enedioic acid

> <ALOGPS_LOGP>
0.37

> <JCHEM_LOGP>
0.287270459

> <ALOGPS_LOGS>
-1.22

> <JCHEM_MDDR_LIKE_RULE>
0

> <JCHEM_NUMBER_OF_RINGS>
0

> <JCHEM_PHYSIOLOGICAL_CHARGE>
-2

> <JCHEM_PKA>
4.659788519242309

> <JCHEM_PKA_STRONGEST_ACIDIC>
3.854151000940069

> <JCHEM_POLAR_SURFACE_AREA>
74.6

> <JCHEM_REFRACTIVITY>
33.5133

> <JCHEM_ROTATABLE_BOND_COUNT>
3

> <JCHEM_RULE_OF_FIVE>
1

> <ALOGPS_SOLUBILITY>
8.69e+00 g/l

> <JCHEM_TRADITIONAL_IUPAC>
β-methylglutaconic acid

> <JCHEM_VEBER_RULE>
0

$$$$

Download
3D-SDF for HMDB0000522 (3-Methylglutaconic acid)
https://cactus.nci.nih.gov/chemical/structure/C%5CC(CC(O)=O)=C/C(O)=O/file?fo...
 OpenBabel09142113213D
Jmol version 14.31.45  2021-07-21 05:08 EXTRACT: ({0:17})
 18 17  0  0  0  0  0  0  0  0999 V2000
   -0.3414    1.8132    0.1112 C   0  0  0  0  0  0  0  0  0  0  0  0
    0.0117    0.4253    0.5804 C   0  0  0  0  0  0  0  0  0  0  0  0
    1.4119    0.1212    1.0474 C   0  0  0  0  0  0  0  0  0  0  0  0
    2.2753   -0.2171   -0.1406 C   0  0  0  0  0  0  0  0  0  0  0  0
    3.5699   -0.5243    0.0365 O   0  0  0  0  0  0  0  0  0  0  0  0
    1.8022   -0.2118   -1.2523 O   0  0  0  0  0  0  0  0  0  0  0  0
   -0.9130   -0.5318    0.5825 C   0  0  0  0  0  0  0  0  0  0  0  0
   -2.2218   -0.2902   -0.0404 C   0  0  0  0  0  0  0  0  0  0  0  0
   -3.1812   -1.2352    0.0187 O   0  0  0  0  0  0  0  0  0  0  0  0
   -2.4394    0.7619   -0.6089 O   0  0  0  0  0  0  0  0  0  0  0  0
   -0.2625    1.8606   -0.9751 H   0  0  0  0  0  0  0  0  0  0  0  0
   -1.3619    2.0498    0.4121 H   0  0  0  0  0  0  0  0  0  0  0  0
    0.3451    2.5331    0.5570 H   0  0  0  0  0  0  0  0  0  0  0  0
    1.8219    0.9925    1.5581 H   0  0  0  0  0  0  0  0  0  0  0  0
    1.3902   -0.7254    1.7336 H   0  0  0  0  0  0  0  0  0  0  0  0
    4.0836   -0.7342   -0.7555 H   0  0  0  0  0  0  0  0  0  0  0  0
   -0.7015   -1.4860    1.0417 H   0  0  0  0  0  0  0  0  0  0  0  0
   -4.0257   -1.0307   -0.4055 H   0  0  0  0  0  0  0  0  0  0  0  0
  1  2  1  0  0  0  0
  1 11  1  0  0  0  0
  1 12  1  0  0  0  0
  1 13  1  0  0  0  0
  2  3  1  0  0  0  0
  2  7  2  0  0  0  0
  3  4  1  0  0  0  0
  3 14  1  0  0  0  0
  3 15  1  0  0  0  0
  4  5  1  0  0  0  0
  4  6  2  0  0  0  0
  5 16  1  0  0  0  0
  7  8  1  0  0  0  0
  7 17  1  0  0  0  0
  8  9  1  0  0  0  0
  8 10  2  0  0  0  0
  9 18  1  0  0  0  0
M  END
$$$$

Download
PDB for HMDB0000522 (3-Methylglutaconic acid)
HEADER    PROTEIN                                 12-FEB-18   NONE
TITLE     NULL                                                        
COMPND    MOLECULE: 3-Methylglutaconic acid.mol                       
SOURCE    NULL                                                        
KEYWDS    NULL                                                        
EXPDTA    NULL                                                        
AUTHOR    Marvin                                                      
REVDAT   1   12-FEB-18         0                                  
HETATM    1  C   UNK     0       2.667  -0.385   0.000  0.00  0.00           C+0
HETATM    2  C   UNK     0       1.334  -1.155   0.000  0.00  0.00           C+0
HETATM    3  C   UNK     0       0.000  -0.385   0.000  0.00  0.00           C+0
HETATM    4  C   UNK     0      -1.334  -1.155   0.000  0.00  0.00           C+0
HETATM    5  C   UNK     0      -2.667  -0.385   0.000  0.00  0.00           C+0
HETATM    6  O   UNK     0       2.667   1.155   0.000  0.00  0.00           O+0
HETATM    7  O   UNK     0       4.001  -1.155   0.000  0.00  0.00           O+0
HETATM    8  O   UNK     0      -2.667   1.155   0.000  0.00  0.00           O+0
HETATM    9  O   UNK     0      -4.001  -1.155   0.000  0.00  0.00           O+0
HETATM   10  C   UNK     0       0.000   1.155   0.000  0.00  0.00           C+0
CONECT    1    2    6    7                                                  
CONECT    2    1    3                                                       
CONECT    3    2    4   10                                                  
CONECT    4    3    5                                                       
CONECT    5    4    8    9                                                  
CONECT    6    1                                                            
CONECT    7    1                                                            
CONECT    8    5                                                            
CONECT    9    5                                                            
CONECT   10    3                                                            
MASTER        0    0    0    0    0    0    0    0   10    0   18    0
END

Download
3D PDB for HMDB0000522 (3-Methylglutaconic acid)
COMPND    https://cactus.nci.nih.gov/chemical/structure/C%5CC(CC(O)=O)=C/C(O)=O/file?fo... 
AUTHOR    GENERATED BY OPEN BABEL 3.1.0
HETATM    1  C   UNL     1      -0.341   1.813   0.111  1.00  0.00           C  
HETATM    2  C   UNL     1       0.012   0.425   0.580  1.00  0.00           C  
HETATM    3  C   UNL     1       1.412   0.121   1.047  1.00  0.00           C  
HETATM    4  C   UNL     1       2.275  -0.217  -0.141  1.00  0.00           C  
HETATM    5  O   UNL     1       3.570  -0.524   0.036  1.00  0.00           O  
HETATM    6  O   UNL     1       1.802  -0.212  -1.252  1.00  0.00           O  
HETATM    7  C   UNL     1      -0.913  -0.532   0.583  1.00  0.00           C  
HETATM    8  C   UNL     1      -2.222  -0.290  -0.040  1.00  0.00           C  
HETATM    9  O   UNL     1      -3.181  -1.235   0.019  1.00  0.00           O  
HETATM   10  O   UNL     1      -2.439   0.762  -0.609  1.00  0.00           O  
HETATM   11  H   UNL     1      -0.263   1.861  -0.975  1.00  0.00           H  
HETATM   12  H   UNL     1      -1.362   2.050   0.412  1.00  0.00           H  
HETATM   13  H   UNL     1       0.345   2.533   0.557  1.00  0.00           H  
HETATM   14  H   UNL     1       1.822   0.993   1.558  1.00  0.00           H  
HETATM   15  H   UNL     1       1.390  -0.725   1.734  1.00  0.00           H  
HETATM   16  H   UNL     1       4.084  -0.734  -0.755  1.00  0.00           H  
HETATM   17  H   UNL     1      -0.702  -1.486   1.042  1.00  0.00           H  
HETATM   18  H   UNL     1      -4.026  -1.031  -0.406  1.00  0.00           H  
CONECT    1    2   11   12   13                                       
CONECT    2    1    3    7    7                                       
CONECT    3    2    4   14   15                                       
CONECT    4    3    5    6    6                                       
CONECT    5    4   16                                                 
CONECT    6    4    4                                                 
CONECT    7    2    2    8   17                                       
CONECT    8    7    9   10   10                                       
CONECT    9    8   18                                                 
CONECT   10    8    8                                                 
CONECT   11    1                                                      
CONECT   12    1                                                      
CONECT   13    1                                                      
CONECT   14    3                                                      
CONECT   15    3                                                      
CONECT   16    5                                                      
CONECT   17    7                                                      
CONECT   18    9                                                      
MASTER        0    0    0    0    0    0    0    0   18    0   18    0
END

Download
SMILES for HMDB0000522 (3-Methylglutaconic acid)
C\C(CC(O)=O)=C/C(O)=O
Download
INCHI for HMDB0000522 (3-Methylglutaconic acid)
InChI=1S/C6H8O4/c1-4(2-5(7)8)3-6(9)10/h2H,3H2,1H3,(H,7,8)(H,9,10)/b4-2+
Download
View in JSmolView Stereo Labels
Synonyms
ValueSource
3-MethylglutaconateGenerator
b-MethylglutaconateHMDB
b-Methylglutaconic acidHMDB
beta-MethylglutaconateHMDB
beta-Methylglutaconic acidHMDB
β-Methylglutaconic acidHMDB
3-Methyl-2-pentenedioic acidHMDB
3-Methylglutaconic acidHMDB, MeSH
3E-MethylglutaconateGenerator, HMDB
Chemical FormulaC6H8O4
Average Molecular Weight144.1253
Monoisotopic Molecular Weight144.042258744
IUPAC Name(2E)-3-methylpent-2-enedioic acid
Traditional Nameβ-methylglutaconic acid
CAS Registry Number5746-90-7
SMILES
C\C(CC(O)=O)=C/C(O)=O
InChI Identifier
InChI=1S/C6H8O4/c1-4(2-5(7)8)3-6(9)10/h2H,3H2,1H3,(H,7,8)(H,9,10)/b4-2+
InChI KeyWKRBKYFIJPGYQC-DUXPYHPUSA-N
Chemical Taxonomy
Description Belongs to the class of organic compounds known as methyl-branched fatty acids. These are fatty acids with an acyl chain that has a methyl branch. Usually, they are saturated and contain only one or more methyl group. However, branches other than methyl may be present.
KingdomOrganic compounds  
Super ClassLipids and lipid-like molecules  
ClassFatty Acyls  
Sub ClassFatty acids and conjugates  
Direct ParentMethyl-branched fatty acids  
Alternative Parents
Substituents
  • Methyl-branched fatty acid
    • 

  • Unsaturated fatty acid
    • 

  • Dicarboxylic acid or derivatives
    • 

  • Carboxylic acid
    • 

  • Carboxylic acid derivative
    • 

  • Organic oxygen compound
    • 

  • Organic oxide
    • 

  • Hydrocarbon derivative
    • 

  • Organooxygen compound
    • 

  • Carbonyl group
    • 

  • Aliphatic acyclic compound
Molecular FrameworkAliphatic acyclic compounds
External Descriptors
Ontology
Physiological effect
Health effect:
Disposition
Route of exposure:
Source:
Biological location:
Process
Naturally occurring process:
Role
Indirect biological role:
Industrial application:
Biological role:
Physical Properties
StateSolid
Experimental Molecular Properties
PropertyValueReference
Melting PointNot AvailableNot Available
Boiling PointNot AvailableNot Available
Water SolubilityNot AvailableNot Available
LogPNot AvailableNot Available
Predicted Molecular Properties
PropertyValueSource
Water Solubility8.69 g/LALOGPS
logP0.37ALOGPS
logP0.29ChemAxon
logS-1.2ALOGPS
pKa (Strongest Acidic)3.85ChemAxon
Physiological Charge-2ChemAxon
Hydrogen Acceptor Count4ChemAxon
Hydrogen Donor Count2ChemAxon
Polar Surface Area74.6 ŲChemAxon
Rotatable Bond Count3ChemAxon
Refractivity33.51 m³·mol⁻¹ChemAxon
Polarizability13.27 ųChemAxon
Number of Rings0ChemAxon
BioavailabilityYesChemAxon
Rule of FiveYesChemAxon
Ghose FilterNoChemAxon
Veber's RuleNoChemAxon
MDDR-like RuleNoChemAxon
Predicted Spectral Properties
Collision Cross Sections
NameAdductTypeData SourceValueReference
DarkChem[M+H]+PredictedNot Available132.71331661259  
DarkChem[M-H]-PredictedNot Available126.53131661259  
AllCCS[M+H]+PredictedNot Available132.69232859911  
AllCCS[M-H]-PredictedNot Available127.88732859911  
Retention Indices
Underivatized
Not Available
Derivatized
DerivativeValueReference
3-Methylglutaconic acid,1TMS,#11426.9268https://arxiv.org/abs/1905.12712
3-Methylglutaconic acid,1TMS,#21393.8258https://arxiv.org/abs/1905.12712
3-Methylglutaconic acid,2TMS,#11470.5702https://arxiv.org/abs/1905.12712
3-Methylglutaconic acid,1TBDMS,#11661.5917https://arxiv.org/abs/1905.12712
3-Methylglutaconic acid,1TBDMS,#21637.8591https://arxiv.org/abs/1905.12712
3-Methylglutaconic acid,2TBDMS,#11894.3439https://arxiv.org/abs/1905.12712
Spectra
GC-MS
Spectrum TypeDescriptionSplash KeyDeposition DateView
Predicted GC-MSPredicted GC-MS Spectrum - GC-MS (Non-derivatized) - 70eV, Positivesplash10-0015-9200000000-ff306cede85d252e0d4c2017-09-01View Spectrum
Predicted GC-MSPredicted GC-MS Spectrum - GC-MS (2 TMS) - 70eV, Positivesplash10-00di-9340000000-0b493822a103307b8f662017-10-06View Spectrum
LC-MS/MS
Spectrum TypeDescriptionSplash KeyDeposition DateView
LC-MS/MSLC-MS/MS Spectrum -  40V, Negativesplash10-000f-9000000000-fa6952af79fc3b2759fe2021-09-20View Spectrum
LC-MS/MSLC-MS/MS Spectrum -  20V, Negativesplash10-0a4j-9000000000-3a5a017393a0592a65ff2021-09-20View Spectrum
LC-MS/MSLC-MS/MS Spectrum -  40V, Negativesplash10-000f-9000000000-14ef6163925508d3f6662021-09-20View Spectrum
LC-MS/MSLC-MS/MS Spectrum -  10V, Negativesplash10-0002-9000000000-ada755597943f74819c42021-09-20View Spectrum
LC-MS/MSLC-MS/MS Spectrum -  10V, Negativesplash10-0002-9000000000-70f10348ac9e844187652021-09-20View Spectrum
LC-MS/MSLC-MS/MS Spectrum -  20V, Negativesplash10-0a4i-9000000000-5a9ee69bdb3960321fa62021-09-20View Spectrum
Predicted LC-MS/MSPredicted LC-MS/MS Spectrum -  10V, Positivesplash10-002b-2900000000-b6862aeffb1aa9fae1d02016-08-03View Spectrum
Predicted LC-MS/MSPredicted LC-MS/MS Spectrum -  20V, Positivesplash10-000i-9300000000-7ab01dfb0b86abdac8172016-08-03View Spectrum
Predicted LC-MS/MSPredicted LC-MS/MS Spectrum -  40V, Positivesplash10-0006-9000000000-3692ceff17a888ae88362016-08-03View Spectrum
Predicted LC-MS/MSPredicted LC-MS/MS Spectrum -  10V, Negativesplash10-0006-5900000000-dc4d4a80a164f3fd1fea2016-08-03View Spectrum
Predicted LC-MS/MSPredicted LC-MS/MS Spectrum -  20V, Negativesplash10-0007-8900000000-7ece848c8011e4a202002016-08-03View Spectrum
Predicted LC-MS/MSPredicted LC-MS/MS Spectrum -  40V, Negativesplash10-0a7l-9300000000-8b54483c15a17429b9f82016-08-03View Spectrum
Predicted LC-MS/MSPredicted LC-MS/MS Spectrum -  10V, Negativesplash10-0002-9200000000-70569e6181007374644c2021-09-08View Spectrum
Predicted LC-MS/MSPredicted LC-MS/MS Spectrum -  20V, Negativesplash10-000t-9000000000-9426c88487da5c337c1b2021-09-08View Spectrum
Predicted LC-MS/MSPredicted LC-MS/MS Spectrum -  40V, Negativesplash10-000x-9000000000-60467181d27d878d6aca2021-09-08View Spectrum
Predicted LC-MS/MSPredicted LC-MS/MS Spectrum -  10V, Positivesplash10-0002-9400000000-79724b8b1198fb4429492021-09-08View Spectrum
Predicted LC-MS/MSPredicted LC-MS/MS Spectrum -  20V, Positivesplash10-001j-9000000000-4f399595435fe16b38802021-09-08View Spectrum
Predicted LC-MS/MSPredicted LC-MS/MS Spectrum -  40V, Positivesplash10-001c-9000000000-1ee161ce72a30f1b08142021-09-08View Spectrum
Biological Properties
Cellular Locations
  • Cytoplasm
    • 

  • Extracellular
    • 

  • Membrane
Biospecimen Locations
  • Cerebrospinal Fluid (CSF)
    • 

  • Feces
    • 

  • Urine
Tissue Locations
  • Placenta
Pathways
Normal Concentrations
BiospecimenStatusValueAgeSexConditionReferenceDetails
Cerebrospinal Fluid (CSF)Detected and Quantified<10 uMAdult (>18 years old)FemaleNormal  details
FecesDetected but not QuantifiedNot QuantifiedAdult (>18 years old)Both
 
Normal		  details
FecesDetected but not QuantifiedNot QuantifiedAdult (>18 years old)Both
 
Normal		  details
UrineDetected and Quantified<6 umol/mmol creatinineChildren (1-13 years old)Not SpecifiedNormal  details
UrineDetected and Quantified0-26 umol/mmol creatinineNewborn (0-30 days old)Both
 
Normal		  details
UrineDetected and Quantified<10 umol/mmol creatinineNot SpecifiedNot SpecifiedNormal  details
UrineDetected and Quantified<20 umol/mmol creatinineNot SpecifiedNot SpecifiedNormal  details
UrineDetected and Quantified<1500 umol/mmol creatinineNot SpecifiedNot SpecifiedNormal  details
UrineDetected but not QuantifiedNot QuantifiedAdult (>18 years old)Both
 
Normal		  details
UrineDetected and Quantified<25 umol/mmol creatinineAdult (>18 years old)FemaleNormal  details
UrineDetected and Quantified1.0 - 6.5 umol/mmol creatinineAdult (>18 years old)FemaleNormal  details
UrineDetected and Quantified0-0.2 umol/mmol creatinineInfant (0-1 year old)Female
 
Normal		  details
UrineDetected and Quantified0-4 umol/mmol creatinineInfant (0-1 year old)Male
 
Normal		  details
UrineDetected and Quantified0-6.0 umol/mmol creatinineInfant (0-1 year old)Male
 
Normal		  details
UrineDetected and Quantified1.8-7.6 umol/mmol creatinineInfant (0-1 year old)Female
 
Normal		  details
UrineDetected and Quantified<6 umol/mmol creatinineNot SpecifiedNot SpecifiedNormal  details
UrineDetected and Quantified<12.42 umol/mmol creatinineChildren (1 - 18 years old)Both
 
Normal
    • BC Children's Hos...
  details
UrineDetected and Quantified<25 umol/mmol creatinineNot SpecifiedNot SpecifiedNormal  details
UrineDetected and Quantified<12 umol/mmol creatinineChildren (1-13 years old)Not SpecifiedNormal  details
UrineDetected and Quantified<20 umol/mmol creatinineInfant (0-1 year old)Not SpecifiedNormal  details
UrineDetected and Quantified<0.0200 umol/mmol creatinineNot SpecifiedNot SpecifiedNormal  details
UrineDetected and Quantified6.2 (2.8-8.3) umol/mmol creatinineAdult (>18 years old)Both
 
Normal		  details
UrineDetected and Quantified10.707 +/- 4.243 umol/mmol creatinineChildren (1 - 13 years old)Not Specified
 
Normal
    • Mordechai, Hien, ...
  details
UrineDetected and Quantified7.5 (3.4-9.5) umol/mmol creatinineAdult (>18 years old)Both
 
Normal		  details
UrineDetected and Quantified15.86 +/- 6.052 umol/mmol creatinineChildren (1 - 13 years old)Not Specified
 
Normal
    • Mordechai, Hien, ...
  details
Abnormal Concentrations
BiospecimenStatusValueAgeSexConditionReferenceDetails
Cerebrospinal Fluid (CSF)Detected and Quantified125 uMAdult (>18 years old)Female3-methylglutaconic aciduria type I  details
UrineDetected and Quantified20-488 umol/mmol creatinineChildren (1-13 years old)BothSengers syndrome  details
UrineDetected and Quantified750.0 (500.0-1000.0) umol/mmol creatinineChildren (1-13 years old)Both3-Methylglutaconic Aciduria (TYPE I)
    • MetaGene: Metabol...
  details
UrineDetected and Quantified0-230 umol/mmol creatinineInfant (0-1 year old)Male3-methylglutaconic aciduria type II, X-linked  details
UrineDetected and Quantified16-68 umol/mmol creatinineAdolescent (13-18 years old)Female3-Methylglutaconic Aciduria (Type IV)  details
UrineDetected and Quantified4-200 umol/mmol creatinineChildren (1-13 years old)Both3-Methylglutaconic Aciduria (Type IV)  details
UrineDetected and Quantified13000 umol/mmol creatinineChildren (1-13 years old)Male3-Methylglutaconic Aciduria (Type V)  details
UrineDetected and Quantified3714 umol/mmol creatinineAdult (>18 years old)Female3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency  details
UrineDetected and Quantified32-51 umol/mmol creatinineAdult (>18 years old)Female3-methylglutaconic aciduria type I  details
UrineDetected and Quantified62-90 umol/mmol creatinineAdult (>18 years old)Female3-methylglutaconic aciduria type I  details
UrineDetected and Quantified4166.4 umol/mmol creatinineNewborn (0-30 days old)Male3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency  details
UrineDetected and Quantified3714 umol/mmol creatinineAdult (>18 years old)Female3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency  details
UrineDetected and Quantified29-109 umol/mmol creatinineChildren (1-13 years old)Female3-Methylglutaconic Aciduria (Type VII)  details
UrineDetected and Quantified34-160 umol/mmol creatinineAdolescent (13-18 years old)Female3-Methylglutaconic Aciduria (Type VII)  details
UrineDetected and Quantified52-93 umol/mmol creatinineInfant (0-1 year old)Female3-Methylglutaconic Aciduria (Type VII)  details
UrineDetected and Quantified0.0160-0.196 umol/mmol creatinineChildren (1-13 years old)Female3-Methylglutaconic Aciduria (Type VI)  details
UrineDetected and Quantified94-141 umol/mmol creatinineAdult (>18 years old)Not Specified
 
3-Methylglutaconic Aciduria (TYPE I)		  details
UrineDetected and Quantified570 umol/mmol creatinineChildren (1-13 years old)Not Specified3-Methylglutaconic Aciduria (TYPE I)  details
UrineDetected and Quantified10.714 +/- 4.929 umol/mmol creatinineChildren (1 - 13 years old)Not Specified
 
Eosinophilic esophagitis
    • Mordechai, Hien, ...
  details
UrineDetected and Quantified12.053 +/- 6.469 umol/mmol creatinineChildren (1 - 13 years old)Not Specified
 
Gastroesophageal reflux disease
    • Mordechai, Hien, ...
  details
UrineDetected and Quantified14.626 +/- 7.998 umol/mmol creatinineChildren (1 - 13 years old)Not Specified
 
Eosinophilic esophagitis
    • Mordechai, Hien, ...
  details
UrineDetected and Quantified4.5 (0.00-9.0) umol/mmol creatinineAdult (>18 years old)Both3-Hydroxy-3-methylglutaryl-CoA lyase deficiency
    • MetaGene: Metabol...
  details
UrineDetected and Quantified17.038 +/- 8.547 umol/mmol creatinineChildren (1 - 13 years old)Not Specified
 
Gastroesophageal reflux disease
    • Mordechai, Hien, ...
  details
UrineDetected and Quantified5070.0 (140.0-10000.0) umol/mmol creatinineChildren (1-13 years old)Both3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency
    • MetaGene: Metabol...
  details
Associated Disorders and Diseases
Disease References
3-Hydroxy-3-methylglutaryl-CoA lyase deficiency
  1. Bischof F, Nagele T, Wanders RJ, Trefz FK, Melms A: 3-hydroxy-3-methylglutaryl-CoA lyase deficiency in an adult with leukoencephalopathy. Ann Neurol. 2004 Nov;56(5):727-30. [PubMed:15505778  ] 
  2. Santarelli F, Cassanello M, Enea A, Poma F, D'Onofrio V, Guala G, Garrone G, Puccinelli P, Caruso U, Porta F, Spada M: A neonatal case of 3-hydroxy-3-methylglutaric-coenzyme A lyase deficiency. Ital J Pediatr. 2013 May 24;39:33. doi: 10.1186/1824-7288-39-33. [PubMed:23705938  ] 
  3. G.Frauendienst-Egger, Friedrich K. Trefz (2017). MetaGene: Metabolic & Genetic Information Center (MIC: http://www.metagene.de). METAGENE consortium. 
3-Methylglutaconic aciduria type I
  1. Engelke UF, Kremer B, Kluijtmans LA, van der Graaf M, Morava E, Loupatty FJ, Wanders RJ, Moskau D, Loss S, van den Bergh E, Wevers RA: NMR spectroscopic studies on the late onset form of 3-methylglutaconic aciduria type I and other defects in leucine metabolism. NMR Biomed. 2006 Apr;19(2):271-8. [PubMed:16541463  ] 
  2. Wortmann SB, Kremer BH, Graham A, Willemsen MA, Loupatty FJ, Hogg SL, Engelke UF, Kluijtmans LA, Wanders RJ, Illsinger S, Wilcken B, Cruysberg JR, Das AM, Morava E, Wevers RA: 3-Methylglutaconic aciduria type I redefined: a syndrome with late-onset leukoencephalopathy. Neurology. 2010 Sep 21;75(12):1079-83. doi: 10.1212/WNL.0b013e3181f39a8a. [PubMed:20855850  ] 
  3. G.Frauendienst-Egger, Friedrich K. Trefz (2017). MetaGene: Metabolic & Genetic Information Center (MIC: http://www.metagene.de). METAGENE consortium. 
Eosinophilic esophagitis
  1.  (). Mordechai, Hien, and David S. Wishart. . 
3-methylglutaconic aciduria type II, X-linked
  1. Cantlay AM, Shokrollahi K, Allen JT, Lunt PW, Newbury-Ecob RA, Steward CG: Genetic analysis of the G4.5 gene in families with suspected Barth syndrome. J Pediatr. 1999 Sep;135(3):311-5. [PubMed:10484795  ] 
3-Methylglutaconic Aciduria type VI
  1. Wortmann S, Rodenburg RJ, Huizing M, Loupatty FJ, de Koning T, Kluijtmans LA, Engelke U, Wevers R, Smeitink JA, Morava E: Association of 3-methylglutaconic aciduria with sensori-neural deafness, encephalopathy, and Leigh-like syndrome (MEGDEL association) in four patients with a disorder of the oxidative phosphorylation. Mol Genet Metab. 2006 May;88(1):47-52. doi: 10.1016/j.ymgme.2006.01.013. Epub 2006 Mar 9. [PubMed:16527507  ] 
3-Methylglutaconic Aciduria type IV
  1. Wortmann SB, Rodenburg RJ, Jonckheere A, de Vries MC, Huizing M, Heldt K, van den Heuvel LP, Wendel U, Kluijtmans LA, Engelke UF, Wevers RA, Smeitink JA, Morava E: Biochemical and genetic analysis of 3-methylglutaconic aciduria type IV: a diagnostic strategy. Brain. 2009 Jan;132(Pt 1):136-46. doi: 10.1093/brain/awn296. Epub 2008 Nov 16. [PubMed:19015156  ] 
3-Methylglutaconic Aciduria type V
  1. Ojala T, Polinati P, Manninen T, Hiippala A, Rajantie J, Karikoski R, Suomalainen A, Tyni T: New mutation of mitochondrial DNAJC19 causing dilated and noncompaction cardiomyopathy, anemia, ataxia, and male genital anomalies. Pediatr Res. 2012 Oct;72(4):432-7. doi: 10.1038/pr.2012.92. Epub 2012 Jul 13. [PubMed:22797137  ] 
3-Methylglutaconic aciduria type VII
  1. Wortmann SB, Zietkiewicz S, Kousi M, Szklarczyk R, Haack TB, Gersting SW, Muntau AC, Rakovic A, Renkema GH, Rodenburg RJ, Strom TM, Meitinger T, Rubio-Gozalbo ME, Chrusciel E, Distelmaier F, Golzio C, Jansen JH, van Karnebeek C, Lillquist Y, Lucke T, Ounap K, Zordania R, Yaplito-Lee J, van Bokhoven H, Spelbrink JN, Vaz FM, Pras-Raves M, Ploski R, Pronicka E, Klein C, Willemsen MA, de Brouwer AP, Prokisch H, Katsanis N, Wevers RA: CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder. Am J Hum Genet. 2015 Feb 5;96(2):245-57. doi: 10.1016/j.ajhg.2014.12.013. Epub 2015 Jan 15. [PubMed:25597510  ] 
Sengers syndrome
  1. Di Rosa G, Deodato F, Loupatty FJ, Rizzo C, Carrozzo R, Santorelli FM, Boenzi S, D'Amico A, Tozzi G, Bertini E, Maiorana A, Wanders RJ, Dionisi-Vici C: Hypertrophic cardiomyopathy, cataract, developmental delay, lactic acidosis: a novel subtype of 3-methylglutaconic aciduria. J Inherit Metab Dis. 2006 Aug;29(4):546-50. doi: 10.1007/s10545-006-0279-y. Epub  2006 May 30. [PubMed:16736096  ] 
Associated OMIM IDs
  • 246450   (3-Hydroxy-3-methylglutaryl-CoA lyase deficiency)
    • 

  • 250950   (3-Methylglutaconic aciduria type I)
    • 

  • 610247   (Eosinophilic esophagitis)
    • 

  • 302060   (3-methylglutaconic aciduria type II, X-linked)
    • 

  • 614739   (3-Methylglutaconic Aciduria type VI)
    • 

  • 250951   (3-Methylglutaconic Aciduria type IV)
    • 

  • 610198   (3-Methylglutaconic Aciduria type V)
    • 

  • 616271   (3-Methylglutaconic aciduria type VII)
    • 

  • 212350   (Sengers syndrome)
DrugBank IDNot Available
Phenol Explorer Compound IDNot Available
FooDB IDFDB022090  
KNApSAcK IDC00052150  
Chemspider ID1267861  
KEGG Compound IDNot Available
BioCyc IDNot Available
BiGG IDNot Available
Wikipedia Link3-Methylglutaconic acid  
METLIN ID5507  
PubChem Compound1551553  
PDB IDNot Available
ChEBI ID37245  
Food Biomarker OntologyNot Available
VMH IDNot Available
MarkerDB IDMDB00000182  
References
Synthesis ReferenceAoyama, Takayuki; Kato, Kazuo; Shimada, Nobuyoshi; Fujii, Akio; Takita, Tomohisa.  Production of 3-methylglutaconic acid.    Jpn. Kokai Tokkyo Koho  (1986),     3 pp.
Material Safety Data Sheet (MSDS)Not Available
General References
  1. Mitchell GA, Jakobs C, Gibson KM, Robert MF, Burlina A, Dionisi-Vici C, Dallaire L: Molecular prenatal diagnosis of 3-hydroxy-3-methylglutaryl CoA lyase deficiency. Prenat Diagn. 1995 Aug;15(8):725-9. [PubMed:7479590  ] 
  2. Holme E, Greter J, Jacobson CE, Larsson NG, Lindstedt S, Nilsson KO, Oldfors A, Tulinius M: Mitochondrial ATP-synthase deficiency in a child with 3-methylglutaconic aciduria. Pediatr Res. 1992 Dec;32(6):731-5. [PubMed:1287564  ] 
  3. Costeff H, Elpeleg O, Apter N, Divry P, Gadoth N: 3-Methylglutaconic aciduria in "optic atrophy plus". Ann Neurol. 1993 Jan;33(1):103-4. [PubMed:8494328  ] 
  4. Sheffer RN, Zlotogora J, Elpeleg ON, Raz J, Ben-Ezra D: Behr's syndrome and 3-methylglutaconic aciduria. Am J Ophthalmol. 1992 Oct 15;114(4):494-7. [PubMed:1384336  ] 
  5. Kelley RI: Quantification of 3-methylglutaconic acid in urine, plasma, and amniotic fluid by isotope-dilution gas chromatography/mass spectrometry. Clin Chim Acta. 1993 Nov 15;220(2):157-64. [PubMed:8111960  ] 
  6. Kelley RI, Kratz L: 3-methylglutaconic acidemia in Smith-Lemli-Opitz syndrome. Pediatr Res. 1995 May;37(5):671-4. [PubMed:7603789  ] 
  7. Elshenawy S, Pinney SE, Stuart T, Doulias PT, Zura G, Parry S, Elovitz MA, Bennett MJ, Bansal A, Strauss JF 3rd, Ischiropoulos H, Simmons RA: The Metabolomic Signature of the Placenta in Spontaneous Preterm Birth. Int J Mol Sci. 2020 Feb 4;21(3). pii: ijms21031043. doi: 10.3390/ijms21031043. [PubMed:32033212  ]